Our findings indicate that detectable decrements in vision-targeted, health-related QOL are observed in patients with homonymous visual field loss. A relationship of the perceived visual functioning with objective parameters is by definition difficult; however, understanding what components of visual function affect certain visual tasks, would help in developing more efficient, clinical assessment strategies. The results reveal a tendency for increasing QOL with advancing size of the area of sparing within the affected hemifield (A-SPAR). The lack of a strong correlation between NEI-VFQ-25 subscales and A-SPAR suggests that an assessment of the visual field may not accurately reflect patients' perceived difficulty in visual tasks. Additional consideration of visual exploration via eye and head movements may improve the correlation between visual function and its perception.

BackgroundThe Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is present in at least 1 out of 4,500 female live births and is the second most common cause for primary amenorrhea. It is characterized by vaginal and uterine aplasia in an XX individual with normal secondary characteristics. It has long been considered a sporadic anomaly, but familial clustering occurs. Several candidate genes have been studied although no single factor has yet been identified. Cases of discordant monozygotic twins suggest that the involvement of epigenetic factors is more likely.MethodsDifferences in gene expression and methylation patterns of uterine tissue between eight MRKH patients and eight controls were identified using whole-genome microarray analyses. Results obtained by expression and methylation arrays were confirmed by qRT-PCR and pyrosequencing.ResultsWe delineated 293 differentially expressed and 194 differentially methylated genes of which nine overlap in both groups. These nine genes are mainly embryologically relevant for the development of the female genital tract.ConclusionOur study used, for the first time, a combined whole-genome expression and methylation approach to reveal the etiology of the MRKH syndrome. The findings suggest that either deficient estrogen receptors or the ectopic expression of certain HOXA genes might lead to abnormal development of the female reproductive tract. In utero exposure to endocrine disruptors or abnormally high maternal hormone levels might cause ectopic expression or anterior transformation of HOXA genes. It is, however, also possible that different factors influence the anti-Mullerian hormone promoter activity during embryological development causing regression of the Müllerian ducts. Thus, our data stimulate new research directions to decipher the pathogenic basis of MRKH syndrome.

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US-guided HIFU is an effective procedure and a minimally invasive alternative for the treatment of breast FA.

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